familial cold autoinflammatory syndrome 3

A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on

A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q.

Signs and symptoms

• Cold urticaria
• Erythema
• Pruritus
• Antinuclear antibody positivity
• Presyncope
• Allergy
• Recurrent sinopulmonary infections
• Asthma
• Allergic rhinitis
• Angioedema

Also known as: FACU; FCAS3; PLAID; PLCG2-associated antibody deficiency and immune dysregulation; familial atypical cold urticaria